Session 1

08:20 - 08:30
 

Welcome from the committee
 

08:30 - 09:20
 

Highlight Speaker: Nancy Cox. Vanderbilt University, Nashville, TN (USA).
Using data integration to create a gene X medical phenome catalog.

09:20 - 09:45
 

Mark Wass. University of Kent, Kent (UK).
Investigating molecular determinants of ebolavirus pathogenicity.

09:45 - 10:10
 

Weijun Luo. University of North Carolina, Charlotte, NC (USA).
Multi-level integrated exome analyses converge to a coherent system of molecular mechanisms on autism.

10:10 - 10:35
 

Coffee Break
 

10:35 - 11:00
 

Pier Luigi Martelli. University of Bologna, Bologna (Italy).
OMIM disease-related variations and their chromosome location: a large-scale investigation.

11:00 - 11:25
 

Kymberleigh Pagel. Indiana University, Bloomington, IN (USA).
Structural and functional alterations underlying loss-of-function genetic.

11:25 - 12:15
 

Highlight Speaker: Daniel Bolon. University of Massachusetts, Worcester, MA (USA)
Utilizing EMPIRIC mutational scans to investigate distinctions between health and disease.

12:15 - 12:30
 

Company Presentation: Andreas Kramer. QIAGEN.
Leveraging network analytics to infer patient syndrome and identify causal mutations in rare disease cases.

12:30 - 13:20

Lunch Break and Poster Session with the Authors.

Session 2

13:20 - 14:10
 

Highlight Speaker: Trey Ideker. University of California at San Diego, La Jolla, CA (USA).
Interpreting variants and mutations using deep biological hierarchies.

14:10 - 14:35
 

Boris Reva. Icahn School of Medicine at Mount Sinai, New York, NY (USA).
Mutation signature for classification of clinically different subtypes of endometrial cancer.

14:35 - 15:00
 

Billur Engin. University of California at San Diego, La Jolla, CA (USA).
Structure-based analysis reveals cancer missense mutations target protein interaction interfaces.

15:00 - 15:25
 
 

Ken Chen. MD Anderson Cancer Center, University of Texas, Houston, TX (USA).
Integrating genome and transcriptome data to predict functional driver mutation in breast cancer.
 

15:25 - 15:50
 

Coffee Break
 

15:50 - 16:40
 
 

Highlight Speaker: Debora Marks. Harvard University, Boston, MA (USA).
Quantitative effects of mutations captured by evolutionary couplings.
 

16:40 - 17:30
 
 
 

Critical Assessment of Genome Interpretation (CAGI) Session
Findings from the IV CAGI, a community experiment to evaluate phenotype prediction.
Steven Brenner. University of California, Berkeley, CA (USA).
John Moult. University of Maryland, Rockville, MD (USA).

17:30 - 18:00
 

Round table discussion
 

18:00 - 18:10

Closing remarks from the committee.